Canonical Allele Identifier: PA2827187173
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143823
ClinVar RCV Id: RCV000169986 RCV000133373 RCV000169915 RCV000544362 RCV001260657 RCV002345449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg178Trp
CA199283
NM_001323289.2:c.532C>T